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The official name of this gene is “chemokine (C-X-C motif) receptor 4.”
CXCR4 is the gene's official symbol. The CXCR4 gene is also known by other names, listed below.
This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Receptor for the C-X-C chemokine CXCL12/SDF-1 that transduces a signal by increasing intracellular calcium ion levels and enhancing MAPK1/MAPK3 activation. Acts as a receptor for extracellular ubiquitin; leading to enhanced intracellular calcium ions and reduced cellular cAMP levels. Involved in hematopoiesis and in cardiac ventricular septum formation. Also plays an essential role in vascularization of the gastrointestinal tract, probably by regulating vascular branching and/or remodeling processes in endothelial cells. Involved in cerebellar development. In the CNS, could mediate hippocampal-neuron survival. Acts as a coreceptor (CD4 being the primary receptor) for HIV-1 X4 isolates and as a primary receptor for some HIV-2 isolates. Promotes Env-mediated fusion of the virus. Binds bacterial lipopolysaccharide (LPS) et mediates LPS-induced inflammatory response, including TNF secretion by monocytes.
NOTE: UniProt (http://www.uniprot.org/uniprot/P61073) suggests using caution when interpreting this information.
WHIM syndrome (WHIM): Immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia and extensive human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis. The disease is caused by mutations affecting the gene represented in this entry.
|||193670 (http://omim.org/entry/193670)||WHIM SYNDROME|
|162643 (http://omim.org/entry/162643)||CHEMOKINE, CXC MOTIF, RECEPTOR 4|
Cytogenetic Location: 2q21
Molecular Location on chromosome 2: base pairs 136,114,348 to 136,118,154
The CXCR4 gene is located on the long (q) arm of chromosome 2 at position 21.
More precisely, the CXCR4 gene is located from base pair 136,114,348 to base pair 136,118,154 on chromosome 2.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about CXCR4 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
bone marrow ; calcium ; cancer ; cardiac ; cell ; CNS ; endothelial cells ; expressed ; extracellular ; gastrointestinal ; gene ; HIV ; immunodeficiency ; infection ; intracellular ; ions ; isoforms ; LPS ; mediate ; mutation ; myeloid ; neuron ; neutropenia ; peripheral ; protein ; receptor ; secretion ; septum ; syndrome ; transmembrane ; ubiquitin ; vascular ; virus
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.